Canonical Allele Identifier: CA3249308917
Community Standard Title: NM_000465.4(BARD1):c.337_339del (p.Asn113del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792322_214792324del , CM000664.2:g.214792322_214792324del GRCh38
NC_000002.11:g.215657046_215657048del , CM000664.1:g.215657046_215657048del GRCh37
NC_000002.10:g.215365291_215365293del NCBI36
NG_012047.2:g.22381_22383del
NG_012047.3:g.22388_22390del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.337_339del MANE Select NP_000456.2:p.Asn113del
ENST00000260947.9:c.337_339del MANE Select ENSP00000260947.4:p.Asn113del
NM_000465.3:c.337_339del NP_000456.2:p.Asn113del
NM_001282543.1:c.280_282del NP_001269472.1:p.Asn94del
NM_001282543.2:c.280_282del NP_001269472.1:p.Asn94del
NM_001282545.1:c.215+4737_215+4739del NP_001269474.1:n.215+4737_215+4739del
NM_001282545.2:c.215+4737_215+4739del NP_001269474.1:n.215+4737_215+4739del
NM_001282548.1:c.158+17088_158+17090del NP_001269477.1:n.158+17088_158+17090del
NM_001282548.2:c.158+17088_158+17090del NP_001269477.1:n.158+17088_158+17090del
NM_001282549.1:c.337_339del NP_001269478.1:p.Asn113del
NM_001282549.2:c.337_339del NP_001269478.1:p.Asn113del
NR_104212.1:n.357+4737_357+4739del
NR_104212.2:n.329+4737_329+4739del
NR_104215.1:n.301-10815_301-10813del
NR_104215.2:n.273-10815_273-10813del
NR_104216.1:n.479_481del
NR_104216.2:n.451_453del
ENST00000260947.8:c.337_339del ENSP00000260947.4:p.Asn113del
ENST00000421162.1:c.215+4737_215+4739del ENSP00000392245.1:n.215+4737_215+4739del
ENST00000421162.2:c.215+4737_215+4739del ENSP00000392245.2:n.215+4737_215+4739del
ENST00000455743.5:c.215+4737_215+4739del ENSP00000412186.1:n.215+4737_215+4739del
ENST00000471787.1:n.260-10815_260-10813del
ENST00000613192.1:c.73+17088_73+17090del ENSP00000483275.1:n.73+17088_73+17090del
ENST00000613192.2:c.158+17088_158+17090del ENSP00000483275.2:n.158+17088_158+17090del
ENST00000613374.4:c.158+17088_158+17090del ENSP00000484464.1:n.158+17088_158+17090del
ENST00000613374.5:c.158+17088_158+17090del ENSP00000484464.1:n.158+17088_158+17090del
ENST00000613706.4:c.215+4737_215+4739del ENSP00000484976.1:n.215+4737_215+4739del
ENST00000613706.5:c.337_339del ENSP00000484976.2:p.Asn113del
ENST00000617164.4:c.280_282del ENSP00000480470.1:p.Asn94del
ENST00000617164.5:c.280_282del ENSP00000480470.1:p.Asn94del
ENST00000619009.4:c.337_339del ENSP00000482293.1:p.Asn113del
ENST00000619009.5:c.337_339del ENSP00000482293.1:p.Asn113del
ENST00000620057.4:c.337_339del ENSP00000481988.1:p.Asn113del
ENST00000650978.1:c.179_181del
XM_011511567.1:c.283_285del XP_011509869.1:p.Asn95del
XM_011511568.1:c.337_339del XP_011509870.1:p.Asn113del
XM_017004613.1:c.436_438del XP_016860102.1:p.Asn146del
XM_017004614.1:c.436_438del XP_016860103.1:p.Asn146del
XR_002959322.1:n.527_529del